{"orpha":565782,"name":"Methotrexate toxicity","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare intoxication characterized by acute renal tubular toxicity due to crystallization of methotrexate in the renal tubular lumen (which in turn leads to impaired methotrexate clearance and further deterioration of renal function and exacerbation of non-renal adverse events), myelosuppression with pancytopenia, gastrointestinal mucositis, maculopapular skin rash, chemical conjunctivitis, hepatotoxicity (reversible chemical hepatitis and hyperbilirubinemia), pulmonary toxicity, and, in severe cases, multiorgan failure. Central nervous system involvement, including headaches, seizures, and stroke-like symptoms, may also be observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-565782/","orphanet_url":"https://www.orpha.net/en/disease/detail/565782","names":{"fr":{"name":"Toxicité au méthotrexate","definition":"Intoxication rare caractérisée par une toxicité tubulaire rénale aiguë due à la cristallisation du méthotrexate dans la lumière du tubule rénal (entraînant une altération de la clairance du méthotrexate et une détérioration de la fonction rénale, ainsi qu'une exacerbation des évènements indésirables non rénaux), une myélosuppression associée à une pancytopénie, une mucosite gastro-intestinale, une éruption cutanée maculopapulaire, une conjonctivite chimique, une hépatotoxicité (hépatite toxique réversible et hyperbilirubinémie), une toxicité pulmonaire et, dans les cas les plus sévères, une défaillance multiviscérale. Une atteinte du système nerveux central se manifestant par des maux de tête, des convulsions et des symptômes de type AVC, peut également s'observer."},"de":{"name":"Methotrexat-Toxizität","definition":"Eine seltene Vergiftung mit akuter tubulärer Nierentoxizität durch Kristallisation von Methotrexat im Tubuluslumen. Dies führt zu einer Beeinträchtigung der Methotrexat-Clearance und zu einer weiteren Verschlechterung der Nierenfunktion sowie zu einer Zunahme nicht-nierenbedingter Nebenwirkungen wie Myelosuppression mit Panzytopenie, gastrointestinale Mukositis, makulopapulöser Hautausschlag, chemische Konjunktivitis, Hepatotoxizität (reversible chemische Hepatitis und Hyperbilirubinämie), Lungentoxizität und in schweren Fällen Multiorganversagen. Eine Beteiligung des Zentralnervensystems, einschließlich Kopfschmerzen, Krämpfen und schlaganfallähnlichen Symptomen, kann ebenfalls beobachtet werden."},"es":{"name":"Toxicidad por metotrexato","definition":"Es una intoxicación poco frecuente caracterizada por nefrotoxicidad tubular aguda debida a la cristalización del metotrexato en la luz tubular renal (que a su vez conduce a una alteración del aclaramiento de metotrexato y a una mayor afectación de la función renal así como a la exacerbación de los efectos adversos extrarrenales), mielosupresión con pancitopenia, mucositis gastrointestinal, erupción cutánea maculopapular, conjuntivitis química, hepatotoxicidad (hepatitis química reversible e hiperbilirrubinemia), toxicidad pulmonar y, en casos graves, fallo multiorgánico. También puede observarse una afectación del sistema nervioso central, que incluye cefaleas, crisis y síntomas similares a un accidente cerebrovascular."},"it":{"name":"Tossicità da metotressato","definition":"Si tratta di un'intossicazione rara, caratterizzata da tossicità tubulare renale acuta secondaria alla cristallizzazione del metotressato nel lume dei tubuli renali (che a sua volta esita nella compromissione della clearance del metotressato, nell'ulteriore deterioramento della funzione renale, e nell'aggravamento degli eventi avversi non renali), mielosoppressione con pancitopenia, mucosite gastrointestinale, eruzione cutanea maculo-papulare, congiuntivite chimica, epatotossicità (epatite chimica reversibile e iperbilirubinemia), tossicità polmonare e, nei casi più gravi, insufficienza multiorgano. I pazienti possono presentare anche un coinvolgimento del sistema nervoso centrale, con cefalea, crisi epilettiche e sintomi simil-ictus."},"nl":{"name":"Methotrexaat-toxiciteit","definition":"Een zeldzame intoxicatie, gekenmerkt door acute vergiftiging van niertubuli door kristallisatie van methotrexaat in lumen van niertubuli (wat vervolgens leidt tot verstoorde klaring van methotrexaat en verdere achteruitgang van de nierfunctie en verergering van niet-renale ongewenste gebeurtenissen), myelosuppressie (beenmergonderdrukking) met pancytopenie, gastro-intestinale mucositis, maculopapulaire huiduitslag, chemische conjunctivitis, leverschade (omkeerbare chemische hepatitis en hyperbilirubinemie), pulmonale toxiciteit, en, in ernstige gevallen, multiorgaanfalen. Betrokkenheid van centraal zenuwstelsel, met onder meer hoofdpijn, insulten, en beroerte-achtige symptomen, wordt mogelijk ook waargenomen."},"pt":{"name":"Toxicidade a metotrexato"},"pl":{"name":"Toksyczność Metotreksatu"},"cs":{"name":"Toxicita metotrexátu"},"uk":{"name":"Токсичність метотрексату","definition":"A rare intoxication characterized by acute renal tubular toxicity due to crystallization of methotrexate in the renal tubular lumen (which in turn leads to impaired methotrexate clearance and further deterioration of renal function and exacerbation of non-renal adverse events), myelosuppression with pancytopenia, gastrointestinal mucositis, maculopapular skin rash, chemical conjunctivitis, hepatotoxicity (reversible chemical hepatitis and hyperbilirubinemia), pulmonary toxicity, and, in severe cases, multiorgan failure. Central nervous system involvement, including headaches, seizures, and stroke-like symptoms, may also be observed."},"zh":{"name":"甲氨蝶呤毒性"},"tr":{"name":"Metotreksat toksisitesi"}},"xrefs":[{"source":"ICD-10","code":"Y14","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"NE60","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0034212","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0568062","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":90070,"name":"OBSOLETE: Methotrexate poisoning","status":"inactive"}],"preferential_parent":{"orpha":108999,"name":"Rare disorder due to toxic effects"},"parents":[{"orpha":306640,"name":"Rare intoxication due to medical products","classifications":[204]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2015[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-03","source":"32310574[PMID]_27496039[PMID]_36312688[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006515","label":"Interstitial pneumonitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001882","label":"Leukopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001889","label":"Megaloblastic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000155","label":"Oral ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Very rare (<4-1%)","criteria":null}]}}